[Fanconi's anemia. Incidence of its development into leukemia]

Fanconi's anaemia (FA) is a hereditary disease transmitted in a recessive manner, characterized by congenital malformations and bone marrow aplasia. A high rate of chromosome breakage is observed in mitoses of cultured blood cells, but the caryotypes are normal. Forty-four patients (27 boys and 17 girls) were followed in the same department between 1962 and 1976. Most were treated with androgens, sometimes combined with corticosteroids. Nine patients died of acute granuloblastic leukaemia, with more than 25% bone marrow blasts; in three of these, cytogenetic examination showed clonal anomalies. Five patients were in preleukaemic state with non-blastic bone marrow; 4 showed clonal anomalies and 2 of these died of aplasia; the 5th patient had gross liver and spleen enlargement and died of haemorrhage. Among the 30 remaining patients 12 are still alive and 18 died of cerebral haemorrhage (7), hepatic failure (3), cardiac failure (1), pancreatitis (1), septicaemia (2) or graft-versus-host reaction after bone marrow transplantation. One patient transplanted 4 years ago has complete chimerism and is still alive without treatment. The incidence of leukaemic or preleukaemic state in this series was 30%, while no case of leukaemia was observed in 200 patients with acquired aplastic anaemia. Neither parents norsibship had leukaemia. Androgen treatment apparently did not increase the risk of leukaemia which developed within 1 to 13 years (mean = 5 years) of the diagnosis, was preceded by a 2 1/2 year long preleukaemic state with clonal chromosomal anamolies and invariably was of the granulocytic type. None of the patients developed cancer. The median survival in this series was 4 1/2 years.